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    USP7 ubiquitin specific peptidase 7 [ Homo sapiens (human) ]

    Gene ID: 7874, updated on 15-Jun-2019

    Summary

    Official Symbol
    USP7provided by HGNC
    Official Full Name
    ubiquitin specific peptidase 7provided by HGNC
    Primary source
    HGNC:HGNC:12630
    See related
    Ensembl:ENSG00000187555 MIM:602519
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TEF1; HAUSP
    Summary
    The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]
    Expression
    Ubiquitous expression in testis (RPKM 31.0), lymph node (RPKM 24.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See USP7 in Genome Data Viewer
    Location:
    16p13.2
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 16 NC_000016.10 (8892094..8963912, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (8985951..9057341, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100130283 Neighboring gene calcium regulated heat stable protein 1 Neighboring gene LITAF domain containing Neighboring gene uncharacterized LOC105371074 Neighboring gene chromosome 16 open reading frame 72 Neighboring gene Sharpr-MPRA regulatory region 4742/14408

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Dual incision in TC-NER, organism-specific biosystem (from REACTOME)
      Dual incision in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), the oligonucleotide that contains the lesion is excised from the open bubbl...
    • Epstein-Barr virus infection, organism-specific biosystem (from KEGG)
      Epstein-Barr virus infection, organism-specific biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
    • Epstein-Barr virus infection, conserved biosystem (from KEGG)
      Epstein-Barr virus infection, conserved biosystemEpstein-Barr virus (EBV) is a ubiquitous human herpesvirus that is associated with oncogenesis. EBV infection to primary human B lymphocytes leads to induction of EBV-specific HLA-restricted cytotoxi...
    • Formation of TC-NER Pre-Incision Complex, organism-specific biosystem (from REACTOME)
      Formation of TC-NER Pre-Incision Complex, organism-specific biosystemFormation of TC-NER pre-incision complex is initiated when the RNA polymerase II (RNA Pol II) complex stalls at a DNA damage site. The stalling is caused by misincorporation of a ribonucleotide oppos...
    • FoxO family signaling, organism-specific biosystem (from Pathway Interaction Database)
      FoxO family signaling, organism-specific biosystem
      FoxO family signaling
    • FoxO signaling pathway, organism-specific biosystem (from KEGG)
      FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
    • Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystem (from REACTOME)
      Gap-filling DNA repair synthesis and ligation in TC-NER, organism-specific biosystemIn transcription-coupled nucleotide excision repair (TC-NER), similar to global genome nucleotide excision repair (GG-NER), DNA polymerases delta or epsilon, or the Y family DNA polymerase kappa, fil...
    • Gene Expression, organism-specific biosystem (from REACTOME)
      Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
    • Generic Transcription Pathway, organism-specific biosystem (from REACTOME)
      Generic Transcription Pathway, organism-specific biosystemOVERVIEW OF TRANSCRIPTION REGULATION: Detailed studies of gene transcription regulation in a wide variety of eukaryotic systems has revealed the general principles and mechanisms by which cell- or t...
    • Herpes simplex infection, organism-specific biosystem (from KEGG)
      Herpes simplex infection, organism-specific biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • Herpes simplex infection, conserved biosystem (from KEGG)
      Herpes simplex infection, conserved biosystemHerpes simplex virus (HSV) infections are very common worldwide, with the prevalence of HSV-1 reaching up to 80%-90%. Primary infection with HSV takes place in the mucosa, followed by the establishme...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
      Nucleotide Excision Repair, organism-specific biosystemNucleotide excision repair (NER) was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recove...
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • Protein ubiquitination, organism-specific biosystem (from REACTOME)
      Protein ubiquitination, organism-specific biosystemUbiquitin is a small, 76 amino acid residue protein that is conjugated by E3 ubiquitin ligases to other proteins in order to regulate their function or degradation (enzymatic cascade reviewed in Neut...
    • Regulation of TP53 Activity, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Activity, organism-specific biosystemProtein stability and transcriptional activity of TP53 (p53) tumor suppressor are regulated by post-translational modifications that include ubiquitination, phosphorylation, acetylation, methylation,...
    • Regulation of TP53 Degradation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Degradation, organism-specific biosystemIn unstressed cells, TP53 (p53) has a short half-life as it undergoes rapid ubiquitination and proteasome-mediated degradation. The E3 ubiquitin ligase MDM2, which is a transcriptional target of TP53...
    • Regulation of TP53 Expression and Degradation, organism-specific biosystem (from REACTOME)
      Regulation of TP53 Expression and Degradation, organism-specific biosystemTP53 (p53) tumor suppressor protein is a transcription factor that functions as a homotetramer (Jeffrey et al. 1995). The protein levels of TP53 are low in unstressed cells due to MDM2-mediated ubiqu...
    • Regulation of toll-like receptor signaling pathway, organism-specific biosystem (from WikiPathways)
      Regulation of toll-like receptor signaling pathway, organism-specific biosystem
      Regulation of toll-like receptor signaling pathway
    • Synthesis of active ubiquitin: roles of E1 and E2 enzymes, organism-specific biosystem (from REACTOME)
      Synthesis of active ubiquitin: roles of E1 and E2 enzymes, organism-specific biosystemUbiquitin monomers are processed from larger precursors and then activated by formation of a thiol ester bond between ubiquitin and a cysteine residue of an E1 activating enzyme (UBA1 or UBA6, Jin et...
    • Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystem (from REACTOME)
      Transcription-Coupled Nucleotide Excision Repair (TC-NER), organism-specific biosystemDNA damage in transcribed strands of active genes is repaired through a specialized nucleotide excision repair (NER) pathway known as transcription-coupled nucleotide excision repair (TC-NER). TC-NER...
    • Transcriptional Regulation by TP53, organism-specific biosystem (from REACTOME)
      Transcriptional Regulation by TP53, organism-specific biosystemThe tumor suppressor TP53 (encoded by the gene p53) is a transcription factor. Under stress conditions, it recognizes specific responsive DNA elements and thus regulates the transcription of many gen...
    • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
      Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
    • Viral carcinogenesis, organism-specific biosystem (from KEGG)
      Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    • Viral carcinogenesis, conserved biosystem (from KEGG)
      Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
    • p53 pathway, organism-specific biosystem (from Pathway Interaction Database)
      p53 pathway, organism-specific biosystem
      p53 pathway

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    Lys48-specific deubiquitinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cysteine-type endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    p53 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    thiol-dependent ubiquitin-specific protease activity TAS
    Traceable Author Statement
    more info
     
    thiol-dependent ubiquitinyl hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    thiol-dependent ubiquitinyl hydrolase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    thiol-dependent ubiquitinyl hydrolase activity TAS
    Traceable Author Statement
    more info
     
    transcription factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ubiquitinyl hydrolase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    histone H2B conserved C-terminal lysine deubiquitination ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    maintenance of DNA methylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    monoubiquitinated protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of NF-kappaB transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of proteasomal ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of DNA demethylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein K48-linked deubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    protein deubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein deubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein deubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein stabilization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein ubiquitination TAS
    Traceable Author Statement
    more info
     
    regulation of DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of circadian rhythm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of protein stability IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of protein stability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of telomere capping TAS
    Traceable Author Statement
    more info
    PubMed 
    rhythmic process IEA
    Inferred from Electronic Annotation
    more info
     
    transcription-coupled nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transcription-coupled nucleotide-excision repair TAS
    Traceable Author Statement
    more info
     
    ubiquitin-dependent protein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    PML body IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    nuclear body HDA PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus HDA PubMed 
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ubiquitin carboxyl-terminal hydrolase 7
    Names
    Herpes virus-associated ubiquitin-specific protease
    deubiquitinating enzyme 7
    ubiquitin specific peptidase 7 (herpes virus-associated)
    ubiquitin specific protease 7 (herpes virus-associated)
    ubiquitin thioesterase 7
    ubiquitin-specific-processing protease 7
    NP_001273386.2
    NP_001273387.1
    NP_001308787.1
    NP_003461.2
    XP_016879141.1
    XP_016879142.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_046847.1 RefSeqGene

      Range
      5001..76391
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286457.2NP_001273386.2  ubiquitin carboxyl-terminal hydrolase 7 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC022167
      Consensus CDS
      CCDS66941.1
      Related
      ENSP00000371310.4, ENST00000381886.8
    2. NM_001286458.2NP_001273387.1  ubiquitin carboxyl-terminal hydrolase 7 isoform 3

      See identical proteins and their annotated locations for NP_001273387.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon and an additional internal exon, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC022167
      UniProtKB/TrEMBL
      B7Z855, B7ZAX6
      Related
      ENSP00000454795.1, ENST00000563085.5
      Conserved Domains (1) summary
      cl02553
      Location:61001
      Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...
    3. NM_001321858.1NP_001308787.1  ubiquitin carboxyl-terminal hydrolase 7 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon, which results in translation initiation from an in-frame downstream start codon compared to variant 1. The resulting isoform (4) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AC022167, AY376241, BM661563, DC403095, Z72499
      UniProtKB/Swiss-Prot
      Q93009
      UniProtKB/TrEMBL
      Q6U8A4
      Conserved Domains (1) summary
      cl02553
      Location:21042
      Peptidase_C19; Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyse bonds involving the carboxyl group of the C-terminal Gly ...
    4. NM_003470.3NP_003461.2  ubiquitin carboxyl-terminal hydrolase 7 isoform 1

      See identical proteins and their annotated locations for NP_003461.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC022167, AY376241, Z72499
      Consensus CDS
      CCDS32385.1
      UniProtKB/Swiss-Prot
      Q93009
      UniProtKB/TrEMBL
      Q6U8A4
      Related
      ENSP00000343535.4, ENST00000344836.9
      Conserved Domains (5) summary
      COG5077
      Location:551100
      COG5077; Ubiquitin carboxyl-terminal hydrolase [Posttranslational modification, protein turnover, chaperones]
      cd02659
      Location:212523
      peptidase_C19C; A subfamily of Peptidase C19. Peptidase C19 contains ubiquitinyl hydrolases. They are intracellular peptidases that remove ubiquitin molecules from polyubiquinated peptides by cleavage of isopeptide bonds. They hydrolyze bonds involving the carboxyl ...
      cd03772
      Location:67202
      MATH_HAUSP; Herpesvirus-associated ubiquitin-specific protease (HAUSP, also known as USP7) family, N-terminal MATH (TRAF-like) domain; composed of proteins similar to human HAUSP, an enzyme that specifically catalyzes the deubiquitylation of p53 and MDM2, hence ...
      pfam12436
      Location:620865
      USP7_ICP0_bdg; ICP0-binding domain of Ubiquitin-specific protease 7
      pfam14533
      Location:8751086
      USP7_C2; Ubiquitin-specific protease C-terminal

    RNA

    1. NR_135826.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon compared to variant 1. It is represented as non-coding because the use of the 5'-most expected translational start codon renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC022167, AK302872, AY376241, BM661563, DC403559, Z72499

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      8892094..8963912 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017023652.1XP_016879141.1  ubiquitin carboxyl-terminal hydrolase 7 isoform X1

    2. XM_017023653.2XP_016879142.1  ubiquitin carboxyl-terminal hydrolase 7 isoform X2

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